Mutation analysis in 11 French patients with Fabry disease.
Guffon
N
N
Centre d'étude des maladies métaboliques, Hôpital Debrousse, Lyon, France.
Froissart
R
R
Chevalier-Porst
F
F
Maire
I
I
D000328:Adult; D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D005602:France; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics*
D004247:DNA; D000519:alpha-Galactosidase